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Variant : CV614084 (GRCh37/hg19 2q37.3(chr2:238795602-242918203)) Homo sapiens

Symbol: CV614084
Name: GRCh37/hg19 2q37.3(chr2:238795602-242918203)
Condition: Brachydactyly-Mental Retardation syndrome [RCV000767788]
Clinical Significance: likely pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: AGXT   ANKMY1   ANO7   AQP12A   AQP12B   ASB1   ATG4B   BOK   CAPN10   COPS9   D2HGDH   DTYMK   DUSP28   ERFE   ESPNL   FARP2   GAL3ST2   GPC1   GPR35   HDAC4   HDLBP   HES6   ILKAP   ING5   KIF1A   KLHL30   MAB21L4   MIR149   MTERF4   NDUFA10   NEU4   OR6B2   OR6B3   OTOS   PASK   PDCD1   PER2   PPP1R7   PRR21   RAMP1   RNPEPL1   RTP5   SCLY   SEPTIN2   SNED1   STK25   THAP4   TRAF3IP1   TWIST2   UBE2F  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372238,795,602 - 242,918,203CLINVAR
Cytogenetic Map22q37.3CLINVAR
Trait Synonyms: CHROMOSOME 2q37 DELETION SYNDROME



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399739
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.